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SPAIN

Cataluña
BARCELONA

Diagnosis of fragile X syndrome (FMR1 gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Cataluña
BARCELONA

Diagnosis of cystic fibrosis (CFTR gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques, MLPA based techniques

SPAIN

Cataluña
BARCELONA

Diagnosis of trisomies 13, 18, 21, X and triploidy (PCR-based STR analysis)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)